Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype
The compound heterozygosity of c.542T>G and c.661T>A variants of the ARSA gene cause adult-onset MLD. The genotype detected in the patients was not reported before in the literature. Moreover, the clinical course of the patients followed a similar pattern with dominantly psychiatric symptoms at the initial stage of the disease, indicating a distinct phenotype caused by the two pathogenic variants of the ARSA gene.
Authors
- Sami Berk Özden (ORCID: https://orcid.org/0000-0002-3000-9749)
- Levent Şi̇mşek (ORCID: https://orcid.org/0000-0001-7729-3970)
- Mahmut Selman Yıldırım (ORCID: https://orcid.org/0000-0002-3986-5517)
- Mehmet Ak (ORCID: https://orcid.org/0000-0003-1771-5654)
Institutions
- Necmettin Erbakan University (TR)
- Sivas State Hospital (TR)
- Education Training And Research (US)
Publication Details
- Journal
- Psychiatric Genetics
- Published
- 2025-03-19
- DOI
- https://doi.org/10.1097/ypg.0000000000000387
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16